We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Pseudoxanthoma elasticum‐like syndrome with coagulation deficiency associated with carotid artery hypoplasia and a novel gamma‐glutamyl carboxylase gene mutation.
- Authors
Guillen‐Climent, Santiago; García‐Vázquez, Alejandro; Silva, Esmeralda; Estebanez, Andrea; Cuesta Peredo, Ana; Rengel Ruiz, Marcelo David; Monteagudo, Carlos; Ramón Quiles, María Dolores
- Abstract
Pseudoxanthoma elasticum-like syndrome with coagulation deficiency associated with carotid artery hypoplasia and a novel gamma-glutamyl carboxylase gene mutation Dear Editor, Pseudoxanthoma elasticum-like syndrome with coagulation deficiency (PXE-like syndrome) is an autosomal recessive disorder caused by gamma-glutamyl carboxylase (GGCX) gene mutations, defined by loose, redundant skin and a deficiency of vitamin K (VK)-dependent clotting factors. Physical examination revealed midfacial hypoplasia, skin laxity with deep skin folds involving the cervical, axillary, laterothoracic, and inguinal regions, and brachyphalangy of the hands and feet (Fig.
- Subjects
GENETIC mutation; CAROTID artery; BLOOD coagulation; INTERNAL carotid artery; SYNDROMES; ACTIVATED protein C resistance; EXFOLIATION syndrome
- Publication
International Journal of Dermatology, 2021, Vol 60, Issue 1, pe13
- ISSN
0011-9059
- Publication type
Article
- DOI
10.1111/ijd.15147